Phenotype #0000237125

Individual ID 00311876
Associated disease DRS
Phenotype details see paper; ..., mesomelic short stature, limb shortening, malar hypoplasia, hypertelorism, short flat nose, low set ears, limited suppination, persistent primary teeth, brachydactyly, bilateral cryptorchidism, genital hypoplasia (1/2); radiography short long bones, bilateral radial head dislocation
Diagnosis/Initial Robinow syndrome
Inheritance Familial, autosomal dominant
Diagnosis/Definite DRS1
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen